ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=)

gnomAD frequency: 0.00038  dbSNP: rs149468118
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503416 SCV000593348 benign not specified 2017-05-26 criteria provided, single submitter clinical testing
GeneDx RCV001692146 SCV001908117 benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259976 SCV002539483 benign Intellectual disability, autosomal dominant 14 2021-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001692146 SCV003276458 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900038 SCV004715427 likely benign ARID1A-related disorder 2022-04-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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